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Congenital Bone & joint Diseases By Dr.Abdullah bin Habeeballah bin Abdullah Juma F.R.C.S.Ed Associate Professor & Consultant Orthopaedic Surgeon
Introduction ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Continue……… ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
1. Genetic Aspects of Orthopaedics ,[object Object]
Basic genetic principles : ,[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object]
[object Object]
[object Object],[object Object]
Structural changes are caused by :   ,[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object]
Genetic Aspects ,[object Object],[object Object]
A. Single Gene Disorders ,[object Object],[object Object],[object Object]
Classification of single gene disorders ,[object Object],[object Object]
Autosomal Dominant Inheritance ,[object Object],[object Object],[object Object]
Autosomal Recessive Inheritance ,[object Object],[object Object]
X-linked Dominant Inheritance ,[object Object],[object Object],[object Object],[object Object]
X-linked Recessive Inheritance ,[object Object]
[object Object],[object Object]
Genetic Aspects ,[object Object],[object Object]
B. Multi-factorial Inheritance ,[object Object],[object Object],[object Object]
Spina Bifida & Anencephaly ,[object Object],[object Object],[object Object],[object Object]
Congenital Talipes Equino-Varus deformity (C.T.E.V.) ,[object Object],[object Object],[object Object],[object Object]
Legg-Calve-Perthes’ Disease ,[object Object],[object Object],[object Object],[object Object],[object Object]
Adolescent Idiopathic Scoliosis  (A.I.S. ) ,[object Object],[object Object],[object Object]
Introduction ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
2. Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object]
Investigations & Diagnosis of Bone Dysplasias ,[object Object],[object Object],[object Object]
[object Object],[object Object]
Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object]
[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
Continue…Classification of Bone Dysplasia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
1. Dwarfism :  2 types ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
2. Disorders around the growth plate :  3 groups ,[object Object],[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
A. Predominantly Epiphyseal Involvement : ,[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
B. Predominantly Metaphyseal Involvement :  ,[object Object],[object Object],[object Object],[object Object],[object Object]
1.  A chondroplasia ,[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object]
B. Predominantly Metaphyseal Involvement :  ,[object Object],[object Object],[object Object],[object Object],[object Object]
2. Hypochondroplasia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object]
B. Predominantly Metaphyseal Involvement :  ,[object Object],[object Object],[object Object],[object Object],[object Object]
3. Metaphyseal Chondrodysplasia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
B. Predominantly Metaphyseal Involvement :  ,[object Object],[object Object],[object Object],[object Object],[object Object]
4. Familial Hypophosphataemia ( Vitamin-D Resistant Rickets ) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object]
A simple Classification of Bone Dysplasias ,[object Object],[object Object],[object Object],[object Object],[object Object]
C. Predominantly Vertebrae ,[object Object],[object Object],[object Object],[object Object]
1. Spondylo – Epiphyseal Dysplsia..  2   forms  : ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
C. Predominantly Vertebrae ,[object Object],[object Object],[object Object],[object Object]
2. Pseudo-Achondroplsia ,[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object]
C. Predominantly Vertebrae ,[object Object],[object Object],[object Object],[object Object]
3. Diastrophic Dysplasia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
C. Predominantly Vertebrae ,[object Object],[object Object],[object Object],[object Object]
4. Rare Syndromes ,[object Object],[object Object],[object Object]
Continue…Classification of Bone Dysplasia ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
3. Changes in the Bone Density ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Increased bone density… A.Osteopetrosis : ,[object Object],[object Object],[object Object],[object Object],[object Object]
Continue .. Osteopetrosis, tarda form ,[object Object],[object Object],[object Object]
3. Changes in the Bone Density ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Increased bone density… B.Pycnodysostosis ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
3. Changes in the Bone Density ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Decreased bone density… Osteogenesis Imperfecta ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Osteogenesis Imperfecta…  2 forms.. ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Osteogenesis Imperfecta..continue ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
4.Cranio-tubular Disorders

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Congenital Bone & Joint Diseases

  • 1. Congenital Bone & joint Diseases By Dr.Abdullah bin Habeeballah bin Abdullah Juma F.R.C.S.Ed Associate Professor & Consultant Orthopaedic Surgeon
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